Canonical Allele Identifier: CA2657583000

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720344-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720346del , CM000684.2:g.50720346del	GRCh38
NC_000022.10:g.51158774del , CM000684.1:g.51158774del	GRCh37
NC_000022.9:g.49505640del	NCBI36
NG_008607.2:g.50992del
NG_070230.1:g.56130del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2114del	ENSP00000489147.2:p.Phe705SerfsTer?
ENST00000414786.7:n.2698del
ENST00000445220.7:c.1166del	ENSP00000489407.2:p.Phe389SerfsTer?
ENST00000664402.2:c.656del	ENSP00000499475.1:p.Phe219SerfsTer?
ENST00000673971.2:c.*1112del	ENSP00000501192.1:n.*1112del
ENST00000445220.6:c.1166del	ENSP00000489407.2:p.Phe389SerfsTer?
ENST00000262795.6:c.2114del	ENSP00000489147.2:p.Phe705SerfsTer?
ENST00000664402.1:c.656del	ENSP00000499475.1:p.Phe219SerfsTer?
ENST00000673971.1:c.*1112del	ENSP00000501192.1:n.*1112del
ENST00000262795.5:c.2510del	ENSP00000489147.1:p.Phe837SerfsTer?
ENST00000414786.6:n.2698del
ENST00000445220.5:c.2492del	ENSP00000489407.1:p.Phe831SerfsTer?